ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA174593
Gene: CKAP5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
161683
ClinVar RCV Id:
RCV000149219
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055571.2:p.Lys241Glu
CA174591
NM_014756.4:c.721A>G